Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Abnormalities, Multiple
/ diagnostic imaging
Adolescent
Adult
Blood Glucose
/ genetics
Brain
/ diagnostic imaging
Child
Child, Preschool
Chromosome Disorders
/ diagnostic imaging
Chromosome Duplication
/ genetics
Comparative Genomic Hybridization
Dwarfism, Pituitary
/ diagnostic imaging
Failure to Thrive
/ epidemiology
Female
Human Growth Hormone
/ deficiency
Humans
Infant
Insulin-Like Growth Factor Binding Protein 3
/ genetics
Insulin-Like Growth Factor I
/ genetics
Magnetic Resonance Imaging
Male
Phenotype
Smith-Magenis Syndrome
/ diagnostic imaging
Young Adult
Potocki-Lupski syndrome
growth hormone
hypoglycemia
short stature
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
17
10
2019
revised:
14
05
2020
accepted:
28
05
2020
pubmed:
14
7
2020
medline:
9
6
2021
entrez:
14
7
2020
Statut:
ppublish
Résumé
Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. Short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of PTLS. Retrospective chart review on a cohort of 37 individuals with PTLS was performed to investigate the etiology of short stature. Relevant data included anthropometric measurements, insulin growth factor-1 (IGF-1), insulin-like growth factor binding protein 3 (IGFBP-3), growth hormone (GH) stimulation testing, blood glucose levels, brain MRI, and bone age. Approximately 25% (9/37) of individuals with PTLS had short stature. Growth hormone deficiency (GHD) was definitively identified in two individuals. These two PTLS patients with growth hormone deficiency, as well as three others with short stature and no documented GHD, received growth hormone and obtained improvement in linear growth. One individual was identified to have pituitary abnormalities on MRI and had complications of hypoglycemia due to unrecognized GHD. Individuals with PTLS can benefit from undergoing evaluation for GHD should they present with short stature or hypoglycemia. Early identification of GHD could facilitate potential therapeutic benefit for individuals with PTLS, including linear growth, musculoskeletal, and in cases of hypoglycemia, potentially cognitive development as well.
Identifiants
pubmed: 32656927
doi: 10.1002/ajmg.a.61741
pmc: PMC8445515
mid: NIHMS1735213
doi:
Substances chimiques
Blood Glucose
0
IGFBP3 protein, human
0
Insulin-Like Growth Factor Binding Protein 3
0
Human Growth Hormone
12629-01-5
Insulin-Like Growth Factor I
67763-96-6
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2077-2084Subventions
Organisme : NHGRI NIH HHS
ID : UM1HG006542
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD083092
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS105078
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Am J Hum Genet. 2010 Mar 12;86(3):462-70
pubmed: 20188345
Minerva Endocrinol. 2015 Jun;40(2):129-43
pubmed: 25734895
Am J Med Genet A. 2010 May;152A(5):1066-78
pubmed: 20425813
Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):176-181
pubmed: 30599478
Genet Med. 2012 Jan;14(1):90-4
pubmed: 22237436
JAMA. 2015 May 26;313(20):2044-54
pubmed: 26010633
J Dev Behav Pediatr. 2010 Feb-Mar;31(2):137-43
pubmed: 20110824
J Perinatol. 2013 May;33(5):394-6
pubmed: 23624966
Am J Hum Genet. 2019 Mar 7;104(3):391-406
pubmed: 30849326
J Pediatr. 2011 Apr;158(4):655-659.e2
pubmed: 21168152
J Med Genet. 2000 Jun;37(6):428-33
pubmed: 10851253
JAMA. 2017 Jun 27;317(24):2545-2546
pubmed: 28654998
Horm Res. 1996;46(6):269-72
pubmed: 8982737
J Pediatr. 1994 Jul;125(1):29-35
pubmed: 8021781
Am J Hum Genet. 2015 Nov 5;97(5):691-707
pubmed: 26544804
J Clin Endocrinol Metab. 2000 Nov;85(11):3990-3
pubmed: 11095419
Am J Hum Genet. 2007 Apr;80(4):633-49
pubmed: 17357070
J Pediatr Genet. 2018 Mar;7(1):29-34
pubmed: 29441219
Croat Med J. 2017 Jun 14;58(3):231-238
pubmed: 28613040
Growth Horm IGF Res. 2016 Jun;28:3-5
pubmed: 26936284
J Pediatr Endocrinol Metab. 1998 Mar;11 Suppl 1:117-20
pubmed: 9642649
Pediatr Ann. 2012 Apr;41(4):e1-9
pubmed: 22494211
Am J Med Genet A. 2011 Feb;155A(2):363-6
pubmed: 21271655
Nat Genet. 2000 Jan;24(1):84-7
pubmed: 10615134
Horm Res Paediatr. 2019;92(1):1-14
pubmed: 31514194
J Pediatr Genet. 2015 Sep;4(3):159-67
pubmed: 27617127
PLoS Biol. 2010 Nov 23;8(11):e1000543
pubmed: 21124890
J Clin Res Pediatr Endocrinol. 2014;6(2):62-7
pubmed: 24932597
Am J Med Genet A. 2011 Feb;155A(2):367-71
pubmed: 21271656